Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia, Belen, Catasus, Nuria, Ros, Andrea, Rosas, Inma, Negro, Alejandro, Guerrero-Murillo, Mercedes, Valero, Ana Maria, Duat-Rodriguez, Anna, Becerra, Juan Luis, Bonache, Sandra, Lázaro Garcia, Conxi, Comas, Carmina, Bielsa, Isabel, Serra, Eduard, Hernández-Chico, Concepción, Martin, Yolanda, Castellanos, Elisabeth, Blanco, Ignacio
Published in Journal of medical genetics (01.10.2022)
Published in Journal of medical genetics (01.10.2022)
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Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
Catasús, Núria, Garcia, Belen, Galván-Femenía, Iván, Plana, Adrià, Negro, Alejandro, Rosas, Inma, Ros, Andrea, Amilibia, Emilio, Becerra, Juan Luis, Hostalot, Cristina, Rocaribas, Francesc, Bielsa, Isabel, Lazaro Garcia, Conxi, de Cid, Rafael, Serra, Eduard, Blanco, Ignacio, Castellanos, Elisabeth
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Lee, Andrew, Pejovic, Tanja, Li, Qiyuan, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Buys, Saundra S, Janavicius, Ramunas, Barrowdale, Daniel, Dennis, Joe, Papi, Laura, Konstantopoulou, Irene, Frost, Debra, Platte, Radka, Ellis, Steve, Sinilnikova, Olga M, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Aittomäki, Kristiina, Rookus, Matti A, Tihomirova, Laima, Hamann, Ute, Imyanitov, Evgeny N, Hogervorst, Frans B L, Diez, Orland, Blanco, Ignacio, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B, Plante, Marie, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Pankratz, Vernon S, Wang, Xianshu, Vijai, Joseph, Aghajanian, Carol A, Berger, Andreas, Tea, Muy-Kheng, Rennert, Gad, Glendon, Gord, Kruse, Torben A, Thomassen, Mads, Zidan, Jamal, Einbeigi, Zakaria, Nussbaum, Robert L, Lester, Jenny, Lambrechts, Diether, Lambrechts, Sandrina, Dicks, Ed, Rossing, Mary Anne, Eilber, Ursula, Wilkens, Lynne R, Hillemanns, Peter, Antonenkova, Natalia, Leminen, Arto, Modugno, Francesmary, Ness, Roberta B, Matsuo, Keitaro, Hosono, Satoyo, Kjaer, Susanne Kruger, Hogdall, Estrid, Woo, Yin-Ling, Goode, Ellen L, Berchuck, Andrew, Iversen, Edwin S, Cramer, Daniel W, Terry, Kathryn L, Bandera, Elisa V, Orlow, Irene, Tangen, Ingvild L, Aben, Katja K H, Brooks-Wilson, Angela, Cybulski, Cezary, Lundvall, Lene, Baker, Helen, Eccles, Diana, Paul, James, Carty, Karen, McGuire, Valerie, Zheng, Wei, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A, Narod, Steven A, Monteiro, Alvaro N, Lin, Hui-Yi, Tsai, Ya-Yu, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Dansonka-Mieszkowska, Agnieszka, Easton, Douglas F, Chenevix-Trench, Georgia
Published in Nature genetics (01.02.2015)
Published in Nature genetics (01.02.2015)
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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Published in Scientific reports (04.01.2017)
Published in Scientific reports (04.01.2017)
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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara
Published in Frontiers in genetics (05.09.2018)
Published in Frontiers in genetics (05.09.2018)
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
Gaudet, Mia M, Kuchenbaecker, Karoline B, Vijai, Joseph, Klein, Robert J, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M, Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M, Pankratz, Vernon S, Wang, Xianshu, Eldridge, Ronald C, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B L, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K, Nathanson, Katherine L, Piedmonte, Marion, Singer, Christian F, Thomassen, Mads, Hansen, Thomas v O, Neuhausen, Susan L, Blanco, Ignacio, Greene, Mark H, Garber, Judith, Weitzel, Jeffrey N, Andrulis, Irene L, Goldgar, David E, D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J, Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M W, van der Hout, Annemarie H, Kets, Carolien M, Aalfs, Cora M, Wijnen, Juul T, Ausems, Margreet G E M, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B, Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M, Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L, Benitez, Javier, Southey, Melissa C, Schmidt, Marjanka K, Fasching, Peter A, Peto, Julian, Humphreys, Manjeet K, Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J, Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E, Milne, Roger L, Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Published in Scientific reports (04.01.2017)
Published in Scientific reports (04.01.2017)
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MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study
GAUSACHS, Mireia, MUR, Pilar, GRUBER, Stephen B, LAZARO, Conxi, BLANCO, Ignacio, CAPELLA, Gabriel, CORRAL, Julieta, PINEDA, Marta, GONZALEZ, Sara, BENITO, Llúcia, MENENDEZ, Mireia, ALFONS ESPINAS, Josep, BRUNET, Joan, INIESTA, María Dolores
Published in European journal of human genetics : EJHG (01.07.2012)
Published in European journal of human genetics : EJHG (01.07.2012)
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
Maxwell, Christopher A, Benítez, Javier, Gómez-Baldó, Laia, Osorio, Ana, Bonifaci, Núria, Fernández-Ramires, Ricardo, Costes, Sylvain V, Guinó, Elisabet, Chen, Helen, Evans, Gareth J R, Mohan, Pooja, Català, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B, Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubiński, Jan, Shugart, Yin Yao, Domchek, Susan M, Letrero, Richard, Weber, Barbara L, Hogervorst, Frans B L, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, Luijt, Rob B van der, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, Roozendaal, Cornelis E P van, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J, Lindor, Noralane M, Wang, Xianshu, Godwin, Andrew K, Caligo, Maria A, Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, Wachenfeldt, Anna von, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U, Lasa, Adriana, Caldés, Trinidad, Andrés, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, João, Tilgner, Hagen, Guigó, Roderic, Aiza, Gemma, Brunet, Joan, Castellsagué, Joan, Martrat, Griselda, Urruticoechea, Ander, Blanco, Ignacio, Tihomirova, Laima
Published in PLoS biology (01.11.2011)
Published in PLoS biology (01.11.2011)
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
Mur, Pilar, De Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J P L, Urioste, Miguel, Puente, Xose S, Capellá, Gabriel, Valle, Laura
Published in Molecular cancer (15.02.2018)
Published in Molecular cancer (15.02.2018)
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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
Osorio, Ana, Milne, Roger L, Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón Y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I, Beattie, Mary S, Domchek, Susan M, Nathanson, Katherine, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, John, Esther M, Whittemore, Alice S, Daly, Mary B, Southey, Melissa, Hopper, John, Terry, Mary B, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas V O, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N, Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons
Published in PLoS genetics (01.04.2014)
Published in PLoS genetics (01.04.2014)
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis
Mur, Pilar, de Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés Mas, Rafael, Bertini, Angelo, Pineda Riu, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro García, Conxi, Kops, Geert J. P. L, Urioste, Miguel, Puente, Xose S, Capellá, G. (Gabriel), Valle, Laura
Published in Molecular cancer (15.02.2018)
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Published in Molecular cancer (15.02.2018)
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance
Gorka Ruiz de Garibay, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S, Villanueva, Alberto, Pujana, Miguel Angel
Published in Disease models & mechanisms (01.05.2018)
Published in Disease models & mechanisms (01.05.2018)
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Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis
Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura
Published in Scientific reports (08.02.2016)
Published in Scientific reports (08.02.2016)
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Telomere length and genetic anticipation in Lynch syndrome
Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura
Published in PloS one (23.04.2013)
Published in PloS one (23.04.2013)
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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, Valle, Jesús del, Perucho, Manuel, Blanco Guillermo, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda Riu, Marta, Feliubadaló i Elorza, Maria Lídia, Capellá, G. (Gabriel), Lázaro García, Conxi, Serra, Eduard
Published in Scientific reports (04.01.2017)
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Published in Scientific reports (04.01.2017)
Journal Article
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
Feliubadaló i Elorza, Maria Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean Rémi, Castellanos, Elisabeth, López Dóriga Guerra, Adriana, Teulé-Vega, Àlex, Tornero, Eva, Valle, Jesús del, Gel, Bernat, Gut, Marta, Pineda Riu, Marta, González, Sara, Menéndez Vilà, Mireia, Navarro, Matilde, Capellá, G. (Gabriel), Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro García, Conxi
Published in Scientific reports (04.01.2017)
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Published in Scientific reports (04.01.2017)
Journal Article
Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer
Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura
Published in PloS one (03.02.2014)
Published in PloS one (03.02.2014)
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